Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Yorck Hellenbroich"'
Autor:
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 100-109 (2024)
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-e
Externí odkaz:
https://doaj.org/article/e71a6d2e4cbc420a8756d1031e1da6dd
Autor:
Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah vonSpiczak, Alexander Münchau
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1524-1527 (2021)
Abstract We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recent
Externí odkaz:
https://doaj.org/article/5f797739908c41b4899691f1b0f64190
Autor:
Jann Lennard Scharf, Michael Gembicki, Christoph Dracopoulos, Yorck Hellenbroich, Anne Offermann, Guido Stichtenoth, Kianusch Tafazzoli‐Lari, Lars Tharun, Jan Weichert
Publikováno v:
Clinical Case Reports, Vol 9, Iss 7, Pp n/a-n/a (2021)
Abstract The delineation of the prenatal diagnostic key features of PIK3CA‐related overgrowth spectrum disorders will assume a crucial part in future and a prenatal diagnosis of the causing mutations would provide physicians with a simplified inter
Externí odkaz:
https://doaj.org/article/b1e8ebf01cd64f17a934ece9f1e4b91b
Autor:
Andreas Recke, Elisabeth G. Massalme, Uta Jappe, Lars Steinmüller-Magin, Julia Schmidt, Yorck Hellenbroich, Irina Hüning, Gabriele Gillessen-Kaesbach, Detlef Zillikens, Karin Hartmann
Publikováno v:
Clinical and Translational Allergy, Vol 9, Iss 1, Pp 1-4 (2019)
Abstract Hereditary angioedema (HAE) is a life-threatening disease characterized by recurrent episodes of subcutaneous and mucosal swellings and abdominal cramping. Corticosteroids and antihistamines, which are usually beneficial in histamine-induced
Externí odkaz:
https://doaj.org/article/e4f5b9ccaf7142e2aeb766193288be17
Autor:
Laura Keil, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier, Paulus Kirchhof, Larissa Fabritz, Yorck Hellenbroich, Rixa Woitschach, Christina Magnussen
Publikováno v:
Genes, Vol 13, Iss 2, p 169 (2022)
We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (S
Externí odkaz:
https://doaj.org/article/1796f77d37274a79a51b3d1b8d366cda
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Lara M. Lange, Nathalie Schell, Sinem Tunc, Moneef Shoukier, Anne Weißbach, Yorck Hellenbroich, Norbert Brüggemann
Publikováno v:
Movement Disorders Clinical Practice. 9:1116-1119
Autor:
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824
https://doi.org/10.1101/2023.04.19.23288824
Autor:
Nadja Baalmann, Malte Spielmann, Gabriele Gillessen- Kaesbach, Britta Hanker, Julia Schmidt, Christina M. Lill, Yorck Hellenbroich, Bianca Greiten, Katja Lohmann, Joanne Trinh, Irina Hüning
Publikováno v:
European Journal of Medical Genetics. 66:104774
Autor:
Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Martje G. Pauly, Kathrin Grundmann-Hauser, Frauke Hinrichs
Publikováno v:
Mov Disord Clin Pract